RGD:28903671 Rat Genome Database

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Variant: RGD:28903671 -  Homo sapiens

RGD ID: 28903671
RS ID: rs9894677
ClinVar ID: CV878306
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 68,173,730
GRCh38 17 70,177,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000891.3:c.*1266C>T
LRG_328:g.13055C>T
NG_008798.1:g.13055C>T
NC_000017.11:g.70177589C>T
More... 		05/13/2021 3 prime utr variant benign Andersen cardiodysrhythmic periodic paralysis; Andersen Syndrome; Long QT syndrome 7; none provided; Periodic paralysis, potassium-sensitive cardiodysrhythmic type; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ2
Accession:NM_000891
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001125763 CLINVAR
  RCV001127868 CLINVAR
  RCV001127869 CLINVAR
  RCV001638043 CLINVAR
dbSNP (RS) rs9894677 CLINVAR
MedGen C1563715 CLINVAR
  C1865018 CLINVAR
  C3151431 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
  613980 CLINVAR
SNOMED CT 422348008 CLINVAR